ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305186
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000181925
RCV003647756
ClinVar Variation:
200546
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Ile42Thr
CA004336
NM_000238.4:c.125T>C